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Chapter 18 Notes

The document discusses genes and inheritance, including how DNA contains genetic codes made up of genes which tell cells how to make proteins. It describes chromosomes, alleles, phenotypes, genotypes, dominant and recessive traits. It explains monogenic and polygenic traits and how to interpret genetic diagrams and family pedigrees to determine inheritance patterns and probabilities of outcomes from genetic crosses.

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emilykrohn42
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32 views

Chapter 18 Notes

The document discusses genes and inheritance, including how DNA contains genetic codes made up of genes which tell cells how to make proteins. It describes chromosomes, alleles, phenotypes, genotypes, dominant and recessive traits. It explains monogenic and polygenic traits and how to interpret genetic diagrams and family pedigrees to determine inheritance patterns and probabilities of outcomes from genetic crosses.

Uploaded by

emilykrohn42
Copyright
© © All Rights Reserved
Available Formats
Download as DOCX, PDF, TXT or read online on Scribd
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CHAPTER 18 GENES AND INHERITANCE

 3.19 understand how genes exist in alternative forms called alleles which give rise to differences in inherited
characteristics
 3.20 understand the meaning of the terms: dominant, recessive, homozygous, heterozygous, phenotype,
and genotype
 PAPER 2 ONLY: 3.21B understand the meaning of the term codominance
 3.22 understand that most phenotypic features are the result of polygenic inheritance rather than single
genes

The nucleus of every cell contains DNA. DNA is a genetic code.

Each instruction in the code is called a gene. Each gene tells the cell how to make a specific
protein. The proteins are what control the cell (e.g. enzymes are proteins, so are structural
proteins like collagen). Sometimes more than one version of a gene occur. The different versions
are called alleles (i.e. we all have the gene for iris pigment, but there are different colours of iris
pigment, same gene but different alleles)

DNA is a very long molecule. To stop it from breaking it is


coiled up inside the nucleus. The coiled up DNA forms a
chromosome. Humans have 23 different chromosomes
inside their cells. We have two copies of each
chromosome, therefore, each cells contains 46
chromosomes. The haploid number is the number of
different chromosomes (i.e. 23) and the diploid number is
the total number of chromosomes in the cell (i.e. 46)

To summarise the keywords:


This topic, more than any other, confuses people. Learn these thoroughly!
DNA: a double stranded molecule made of nucleotides that has the codes to make proteins
Chromosome: Coiled up strand of DNA
Homologous chromosomes: a pair of chromosomes, one from
each parent, that carries the same genes at the same location
along their length
Haploid number: the number of different chromosomes in a
cell (humans = 23)
Diploid number: the total number of paired chromosomes in a cell (humans = 46)
Gene: One instruction in the code telling a cell how to make a specific protein
Allele: A different version of a gene

Each parent gives only one of each of the pairs of chromosomes to their gametes. A pair of
chromosomes will have exactly the same genes on them, but not necessarily the same alleles! This
is the source of genetic variation in gametes.
Phenotype: physical appearance of a characteristic – a
result of a combination of genetics and environment
Genotype: the combination of alleles an individual
possesses
Heterozygous: two different alleles in genotype (i.e. B
b)
Homozygous: both alleles the same in genotype (i.e. B
B or b b)
Alleles for the same gene can be:
- Dominant – always affect the phenotype (allele represented with capital letter)
- Recessive – never affect the phenotype in the presence of a dominant allele (allele represented
with lower case letter)
- Co-dominant – affect the phenotype equally in the presence of another co-dominant allele (both
alleles have capital letters)

Monogenic traits
Some features are controlled by only one gene – they are monogenic. This means
that the variation is discontinuous (in categories). You would use a bar chart to
represent this data. Example: blood group or ability to roll your tongue

Polygenic traits
Some features are controlled by multiple genes – they are polygenic.
This means that the variation is continuous (a range of values
possible). You would use a line graph for this data. Example: skin
colour, height
 3.23 describe patterns of monohybrid inheritance using a genetic diagram
 3.24 understand how to interpret family pedigrees
 3.25 predict probabilities of outcomes from monohybrid crosses

Inheritance patterns are always given using a genetic diagram If this comes up you get loads of
marks for it, but only if you use the genetic diagram!

A genetic diagram shows you the probability of the offspring of two parents having a specific
feature.

Genetic diagram 1: The Punnett square


How to use:
1. Put the possible gametes from one parent down the side and the possible gametes from the
other parent along the top
2. Then in each middle square you fill in the letters from the top and the side that line up with
that square. The pairs of letters in the middle show the possible combinations of gametes
3. You can express the probability of the possible outcomes in percentages, ratios or fractions

In this example showing a homozygous recessive green pea plant crossed


with a heterozygous yellow pea plant there are two squares with the Yy
(yellow) combination and two with yy (green) combination so the
probability is 50% green and 50% yellow. You can also express this as a
ratio… there is a 1:1 chance of green and yellow peas. Alternatively, you
can express this as a fraction: there is a ½ chance of green and ½ chance of
yellow peas.

REMEMBER: only one of the possibilities would actually happen for any one offspring and the
probability is the same for EACH pregnancy regardless of already existing offspring.

Genetic diagram 2:
This looks a little more complicated but works in the
same way.
 The top row are the parents
 The middle circles show the possible gametes
that are formed.
 The criss-cross lines show all the possible ways
the gametes could combined
 The bottom row shows the possible
combinations for the offspring
Family pedigree charts

A pedigree chart shows the family history of a genetic condition.


1. Each row is a generation.
2. Females are always circles
3. Males are always squares
4. Any individual in a generation NOT connected to the horizontal generation line is someone
who has married into the family
5. The siblings in a generation are arranged in order of birth, from left to right
6. A key is needed to interpret the rules of the shading/colouring

This diagram shows the family history of a genetic


disease over four generations. The original parents
had five children. Their eldest was an affected female.
Their second child was an affected male who married
a normal female and had three children of their own.
Two of those children (their second son and their only
daughter) have the genetic condition. Both of these
children married unaffected partners. Their son had
two unaffected daughters. Their daughter had two
sons, the eldest was affected, but the youngest was
not.

We can tell this disease is a dominant one as in every case of an affected offspring one of the
parents is also affected. Where both parents are unaffected none of their children or
grandchildren has the disease (see the fourth child of the original parents).

If the disease is recessive a family pedigree chart will prove this if you have an
affected child born to two unaffected parents. This would mean that the two
parents were unaffected but they were heterozygous for the condition, so
both parents gave their recessive allele to the child. See the punnett square 

This version of a pedigree chart gives us slightly


more information that the previous one. It shows us
whether the individual is homozygous (solid colours)
or heterozygous (mixed colours). When a genetic
condition is recessive, we say that heterozygous
individuals are carriers. They themselves are
unaffected, but they ‘carry’ the affected allele which
they can pass to their offspring
 3.26 understand how the sex of a person is controlled by one pair of chromosomes, XX in a female and XY in
a male
 3.27 describe the determination of the sex of offspring at fertilisation, using a genetic diagram

There are 23 pairs of chromosomes in


most human body cells. The first 22 pairs
are homologous meaning they are a
matched pair. They carry the same genes
at the same location along their length.
We get one from mother and one from
father.

The 23rd pair is known as the sex


chromosomes. There are two sex
chromosomes: X and Y. If you have a
matched pair (XX) then you are female. If
you have one of each (XY) then you are male. Note: YY combination is not possible as only males
have a Y chromosome and sperm cannot fertilise one another.

We can predict the probability of having a boy or a


girl using a genetic diagram 
As you can see, there is a 50% chance of having a boy
or a girl for each pregnancy.
Also note: the gender of the baby is determined by
the sperm!

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